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Select item 109706981.

Prevalence of Endocrinopathies in a Cohort of Patients with Rett Syndrome: A Two-Center Observational Study

Giorgia Pepe, Roberto Coco, Domenico Corica, Gabriella Di Rosa, Filip Bossowski, Magdalena Skorupska, Tommaso Aversa, Stefano Stagi, Malgorzata Wasniewska

Genes (Basel) 2024 Mar; 15(3): 287. Published online 2024 Feb 24. doi: 10.3390/genes15030287

PMCID:: PMC10970698

Article PDF–676K

Select item 109196002.

De novo copy number variations in candidate genomic regions in patients of severe autism spectrum disorder in Vietnam

Hoa Thi Phuong Bui, Duong Huy Do, Ha Thi Thanh Ly, Kien Trung Tran, Huong Thi Thanh Le, Kien Trung Nguyen, Linh Thi Dieu Pham, Hau Duc Le, Vinh Sy Le, Arijit Mukhopadhyay, Liem Thanh Nguyen

PLoS One. 2024; 19(3): e0290936. Published online 2024 Mar 7. doi: 10.1371/journal.pone.0290936

PMCID:: PMC10919600

Article PDF–1.0M

Select item 108577743.

Mutations in the transcriptional regulator MeCP2 severely impact key cellular and molecular signatures of human astrocytes during maturation

Jialin Sun, Sivan Osenberg, Austin Irwin, Li-Hua Ma, Nigel Lee, Yangfei Xiang, Feng Li, Ying-Wooi Wan, In-Hyun Park, Mirjana Maletic-Savatic, Nurit Ballas

Cell Rep. Author manuscript; available in PMC 2024 Feb 9.

Published in final edited form as: Cell Rep. 2023 Jan 31; 42(1): 111942. Published online 2023 Jan 5. doi: 10.1016/j.celrep.2022.111942

PMCID:: PMC10857774

Article PDF–4.3M

Select item 108448824.

MeCP2 represses the activity of topoisomerase IIβ in long neuronal genes

Sabin A. Nettles, Yoshiho Ikeuchi, Katheryn B. Lefton, Ladan Abbasi, Alyssa Erickson, Chibueze Agwu, Thomas Papouin, Azad Bonni, Harrison W. Gabel

Cell Rep. Author manuscript; available in PMC 2024 Feb 6.

Published in final edited form as: Cell Rep. 2023 Dec 26; 42(12): 113538. Published online 2023 Dec 12. doi: 10.1016/j.celrep.2023.113538

PMCID:: PMC10844882

Article PDF–2.0M

Select item 108292265.

Rett syndrome in Ireland: a demographic study

Komal Zade, Ciara Campbell, Snow Bach, Hazel Fernandes, Daniela Tropea

Orphanet J Rare Dis. 2024; 19: 34. Published online 2024 Jan 31. doi: 10.1186/s13023-024-03046-8

PMCID:: PMC10829226

Article PDF–1.7M

Select item 108151576.

The Efficacy of a Human-Ready miniMECP2 Gene Therapy in a Pre-Clinical Model of Rett Syndrome

Chanchal Sadhu, Christopher Lyons, Jiyoung Oh, Indumathy Jagadeeswaran, Steven J. Gray, Sarah E. Sinnett

Genes (Basel) 2024 Jan; 15(1): 31. Published online 2023 Dec 24. doi: 10.3390/genes15010031

PMCID:: PMC10815157

Article PDF–2.8M

Select item 107988817.

Genetic etiology of progressive pediatric neurological disorders

Juho Aaltio, Anna Etula, Simo Ojanen, Virginia Brilhante, Tuula Lönnqvist, Pirjo Isohanni, Anu Suomalainen

Pediatr Res. 2024; 95(1): 102–111. Published online 2023 Aug 10. doi: 10.1038/s41390-023-02767-z

PMCID:: PMC10798881

Article PDF–2.3M

Select item 107695558.

Analysis of the interplay between MeCP2 and histone H1 during in vitro differentiation of human ReNCell neural progenitor cells

Edilene Siqueira, Bo-Hyun Kim, Larry Reser, Robert Chow, Kerry Delaney, Manel Esteller, Mark M. Ross, Jeffrey Shabanowitz, Donald F. Hunt, Sonia Guil, Juan Ausió

Epigenetics. 2023; 18(1): 2276425. Published online 2023 Nov 17. doi: 10.1080/15592294.2023.2276425

PMCID:: PMC10769555

Article PDF–7.1M

Select item 106990949.

Associations Among Diurnal Salivary Cortisol Patterns, Medication Use, and Behavioral Phenotype Features in a Community Sample of Rett Syndrome

Breanne J. Byiers, Ameante Payen, Timothy Feyma, Angela Panoskaltsis-Mortari, Michael J. Ehrhardt, Frank J. Symons

Am J Intellect Dev Disabil. Author manuscript; available in PMC 2023 Dec 6.

Published in final edited form as: Am J Intellect Dev Disabil. 2020 Sep 1; 125(5): 353–368. doi: 10.1352/1944-7558-125.5.353

PMCID:: PMC10699094

Article PDF–782K

Select item 1069147310.

A novel pathogenic mutation of MeCP2 impairs chromatin association independent of protein levels

Jian Zhou, Claudia Cattoglio, Yingyao Shao, Harini P. Tirumala, Carlo Vetralla, Sameer S. Bajikar, Yan Li, Hu Chen, Qi Wang, Zhenyu Wu, Bing Tang, Mahla Zahabiyon, Aleksandar Bajic, Xiangling Meng, Jack J. Ferrie, Anel LaGrone, Ping Zhang, Jean J. Kim, Jianrong Tang, Zhandong Liu, Xavier Darzacq, Nathaniel Heintz, Robert Tjian, Huda Y. Zoghbi

Genes Dev. 2023 Oct 1; 37(19-20): 883–900. doi: 10.1101/gad.350733.123

PMCID:: PMC10691473

Article PDF–5.7M

Select item 1069146311.

Imaging the binding of MECP2 to DNA

Anne E. West

Genes Dev. 2023 Oct 1; 37(19-20): 863–864. doi: 10.1101/gad.351285.123

PMCID:: PMC10691463

Article PDF–36K

Select item 1064469312.

Electroencephalographic (EEG) Biomarkers in Genetic Neurodevelopmental Disorders

Kimberly Goodspeed, Dallas Armstrong, Alison Dolce, Patricia Evans, Rana Said, Peter Tsai, Deepa Sirsi

J Child Neurol. 2023 May; 38(6-7): 466–477. Published online 2023 Jun 1. doi: 10.1177/08830738231177386

PMCID:: PMC10644693

Article PDF–663K

Select item 1060598013.

Effect of presentation rate on auditory processing in Rett syndrome: event-related potential study

Daria Kostanian, Anna Rebreikina, Victoria Voinova, Olga Sysoeva

Mol Autism. 2023; 14: 40. Published online 2023 Oct 26. doi: 10.1186/s13229-023-00566-1

PMCID:: PMC10605980

Article PDF–1.9M

Select item 1058101314.

Library Screening Reveals Sequence Motifs that Enable ADAR2 Editing at Recalcitrant Sites

Casey S. Jacobsen, Prince Salvador, John F. Yung, Sabrina Kragness, Herra G. Mendoza, Gail Mandel, Peter A. Beal

ACS Chem Biol. Author manuscript; available in PMC 2023 Oct 23.

Published in final edited form as: ACS Chem Biol. 2023 Oct 20; 18(10): 2188–2199. Published online 2023 Apr 11. doi: 10.1021/acschembio.3c00107

PMCID:: PMC10581013

Article PDF–1.7M

Select item 1057146415.

Top caregiver concerns in Rett syndrome and related disorders: data from the US natural history study

Jeffrey L. Neul, Timothy A. Benke, Eric D. Marsh, Bernhard Suter, Lori Silveira, Cary Fu, Sarika U. Peters, Alan K. Percy, for the Rett syndrome Natural History Study Group

J Neurodev Disord. 2023; 15: 33. Published online 2023 Oct 13. doi: 10.1186/s11689-023-09502-z

PMCID:: PMC10571464

Article PDF–1.2M

Select item 1050314916.

Identification of molecular signatures and pathways involved in Rett syndrome using a multi-omics approach

Ainhoa Pascual-Alonso, Clara Xiol, Dmitrii Smirnov, Robert Kopajtich, Holger Prokisch, Judith Armstrong

Hum Genomics. 2023; 17: 85. Published online 2023 Sep 15. doi: 10.1186/s40246-023-00532-1

PMCID:: PMC10503149

Article PDF–3.6M

Select item 1045434117.

Multidisciplinary Management of Rett Syndrome: Twenty Years’ Experience

Sandra Vilvarajan, Madeleine McDonald, Lyndal Douglas, Jessica Newham, Robyn Kirkland, Gloria Tzannes, Diane Tay, John Christodoulou, Susan Thompson, Carolyn Ellaway

Genes (Basel) 2023 Aug; 14(8): 1607. Published online 2023 Aug 11. doi: 10.3390/genes14081607

PMCID:: PMC10454341

Article PDF–909K

Select item 1041261118.

Abnormal spectral and scale-free properties of resting-state EEG in girls with Rett syndrome

Olga Sysoeva, Vladimir Maximenko, Alexander Kuc, Victoria Voinova, Olga Martynova, Alexander Hramov

Sci Rep. 2023; 13: 12932. Published online 2023 Aug 9. doi: 10.1038/s41598-023-39398-7

PMCID:: PMC10412611

Article PDF–2.6M

Select item 1040383319.

Comparative yield of molecular diagnostic algorithms for autism spectrum disorder diagnosis in India: evidence supporting whole exome sequencing as first tier test

Frenny Sheth, Jhanvi Shah, Deepika Jain, Siddharth Shah, Harshkumar Patel, Ketan Patel, Dhaval I Solanki, Anand S Iyer, Bhargavi Menghani, Priti Mhatre, Sanjiv Mehta, Shruti Bajaj, Vishal Patel, Manoj Pandya, Deepak Dhami, Darshan Patel, Jayesh Sheth, Harsh Sheth

BMC Neurol. 2023; 23: 292. Published online 2023 Aug 5. doi: 10.1186/s12883-023-03341-0